Canonical Allele Identifier: CA418822079
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs1314192729
gnomAD v2: 1-94528198-C-T
gnomAD v4: 1-94062642-C-T
MyVariant Identifiers: chr1:g.94528198C>T (hg19) chr1:g.94062642C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94062642C>T , CM000663.2:g.94062642C>T GRCh38
NC_000001.10:g.94528198C>T , CM000663.1:g.94528198C>T GRCh37
NC_000001.9:g.94300786C>T NCBI36
NG_009073.1:g.63508G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.1872G>A MANE Select ENSP00000359245.3:p.Val624=
ENST00000649773.1:c.1872G>A ENSP00000496882.1:p.Val624=
ENST00000370225.3:c.1872G>A ENSP00000359245.3:p.Val624=
ENST00000536513.5:c.-65+532G>A ENSP00000439707.2:n.-65+532G>A
NM_000350.2:c.1872G>A NP_000341.2:p.Val624=
NM_000350.3:c.1872G>A MANE Select NP_000341.2:p.Val624=
Search 100 bp 5'
Search 100 bp 3'